ORPHA:697764

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation

This disease is described under Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation
fr	Syndrome de déficience intellectuelle-voix nasale-dysmorphie craniofaciale dû à une mutation de CNOT2
de	Intelligenzminderung-nasale Sprache-kraniofaziale Dysmorphie-Syndrom, CNOT-assoziiert
es	Síndrome de discapacidad intelectual-voz nasal-dismorfia craneofacial por mutación de CNOT2
it	Sindrome disabilità intellettiva-voce nasale-dismorfismi craniofacciali da mutazione di CNOT2
nl	Intellectuele achterstand - nasale spraak - craniofaciale dysmorfie-syndroom door CNOT2-mutatie
pt	Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation
pl	Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation
cs	Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618608	NTBT		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:697760Intellectual disability-nasal speech-craniofacial dysmorphism syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CNOT2	Disease-causing germline mutation(s) in	Assessed	HGNC:7878	ENSG00000111596	604909	12q15	CCR4-NOT transcription complex subunit 2	36224108[PMID]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.